A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419694



Internal ID22477564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57084786..57084786hg38UCSC Ensembl
chr4:57950952..57950952hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5954258
Supporting Variants
Samples
Known GenesIGFBP7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419694
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer